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  Home > Spotlight > Stephanie Valberg and Jim Mickelson

Unlocking the Genetic Code
University researchers find the cause of a fatal equine disease

photo of Stephanie Valberg

Stephanie Valberg
Veterinary Population Medicine

photo of Jim Mickelson

Jim Mickelson
Veterinary Biosciences

Many young foals die each year despite advances in neonatal intensive care and the best veterinary treatment available. These deaths are devastating for the animals' owners. However, the work of Stephanie Valberg and Jim Mickelson in the College of Veterinary Medicine has enabled future prevention of the disease.

Valberg and Mickelson identified an inherited disorder called glycogen branching enzyme deficiency (GBED) in American quarter horses and related breeds. This disease appears to be the cause for many unexplained stillbirths and deaths of young foals.

Affected foals are often born dead, weak at birth with a low body temperature, dead by eight weeks of age due to cardiac arrest, or euthanized because they become weak and are unable to rise. GBED foal tissues show no normal sugar (glycogen) when viewed under a microscope, while they display excessive amounts of an abnormal sugar (polysaccharide). How do horses get the disease? Genetic analysis indicates the disease is an autosomal recessive trait, which means both the stallion and mare must carry and pass on the mutant gene for it to affect the foal.

What does this research mean?

Ph.D. student Tara Ward, working in Mickelson's laboratory, identified the chromosomal location and specific mutation in the mutant horse GBE1 gene that causes this devastating disease. GBED is the equine equivalent of a rare condition in humans known as glycogen storage disease type IV.

This exciting discovery is another demonstration of the ability of state-of-the-art comparative medicine and molecular genetic approaches to unravel the basic causes of disease in domestic animal species. Work is now ongoing to determine the prevalence of GBED in the United States quarter horse population and to estimate its overall role in foal death and late-term abortion. A test is offered for horse breeders to determine whether mares and stallions are carriers, thereby enabling the breeders to reduce or eliminate production of GBED foals.

For more information, go to: www.academic-server.cvm.umn.edu/neuromuscularlab/immune.htm
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